RESUMO
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant multiorgan systemic disorder manifesting as cutaneous fibrofolliculomas, lung cysts with or without spontaneous pneumothorax, and renal tumors. It results from mutation of the gene located on the short arm of chromosome 17 (17p11.2). The gene codes for the protein folliculin, which is believed to be an oncogene suppressor protein. This syndrome is often underdiagnosed. Presence of lung cysts on chest CT should prompt inclusion of BHDS in the differential diagnosis, since these findings may develop earlier than other manifestations. There are key imaging characteristics of pulmonary cysts on CT of the chest which can suggest the diagnosis of BHDS and help in early detection and prompt screening for renal tumors. The main concern with BHDS is the increased risk of renal carcinoma. Here, we report a case of a 59-year-old male who was suspected to have the diagnosis of BHDS based on characteristic features of lung cysts on the Chest CT, subsequently confirmed by genetic testing.
RESUMO
Giant cell arteritis, the most common form of vasculitis in the elderly, is characterized by granulomatous inflammation of arteries, which can lead to serious, life-threatening conditions including aortic aneurysms, ruptures, and dissections as well as blindness. Since GCA can be treated by immunosuppressant therapy, such as corticosteroids, early diagnosis and treatment may reduce the risk of serious disability and morbidity. While temporal artery biopsy is considered the gold standard to diagnosis giant cell arteritis, it is intrusive with inherent risks as well as unreliable due to tissue sampling. Imaging studies, such as computerized tomography, are nonintrusive and have been shown to identify vasculitis including giant cell arteritis. We present a case of a 72-year-old male patient who was diagnosed with giant cell arteritis by temporal artery biopsy during surgery for aortic aneurysm and coronary artery bypass graft. Computerized tomography imaging studies, prior to the surgery and biopsy, were suggestive of vasculitis. This case serves to emphasize the beneficial role of imaging studies to assess vasculitis, including giant cell arteritis, that can be done prior to the progressive development of more serious debilitating and potentially fatal pathology.
RESUMO
Transcatheter aortic valve replacement has become a mainstream therapeutic option for patients with severe aortic stenosis who are at intermediate risk or high risk for surgical valve replacement. Computed tomography (CT) is now the standard imaging modality for preoperative vascular access planning an aortic annular sizing. This article reviews the established and potential future roles of CT in transcatheter aortic valve replacement.
